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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAPGEF1 Gene

protein-coding   GIFtS: 64
GCID: GC09M134452

Rap Guanine Nucleotide Exchange Factor (GEF) 1

(Previous name: guanine nucleotide-releasing factor 2 (specific for crk...)
(Previous symbol: GRF2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rap Guanine Nucleotide Exchange Factor (GEF) 11 2     C3G2 5
GRF21 2 3 5     Rap Guanine Nucleotide Exchange Factor 12
Guanine Nucleotide-Releasing Factor 2 (Specific For Crk Proto-Oncogene)1 2     Guanine Nucleotide-Releasing Factor 23
CRK SH3-Binding GNRP2 3     Protein C3G3

External Ids:    HGNC: 45681   Entrez Gene: 28892   Ensembl: ENSG000001072637   OMIM: 6003035   UniProtKB: Q139053   

Export aliases for RAPGEF1 gene to outside databases

Previous GC identifers: GC09M129729 GC09M131481 GC09M133441 GC09M103946


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAPGEF1 Gene:
This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3
domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be
involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively
spliced transcript variants of this gene have been described, but the full-length nature of some variants has not
been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for RAPGEF1 Gene: 
RAPGEF1 (Rap guanine nucleotide exchange factor (GEF) 1) is a protein-coding gene. Diseases associated with RAPGEF1 include blastoma, and cervical squamous cell carcinoma, and among its related super-pathways are Development HGF signaling pathway and Integrin-mediated cell adhesion. GO annotations related to this gene include SH3 domain binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS2.

UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
Function: Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals
from CRK to activate RAS

Gene Wiki entry for RAPGEF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_035014.4  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAPGEF1 gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RAPGEF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPGEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34.3

RAPGEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M134452:  view genomic region     (about GC identifiers)

Start:
134,452,157 bp from pter      End:
134,615,461 bp from pter
Size:
163,305 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 1  
Size: 1077 amino acids; 120548 Da
Subunit: Interacts with CRK via its SH3-binding sites
Secondary accessions: Q5JUE4 Q8IV73
Alternative splicing: 3 isoforms:  Q13905-1   Q13905-2   Q13905-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPGEF1: NX_Q13905

Explore proteomics data for RAPGEF1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Tyr-504 enhances activity as Rap guanine nucleotide exchange factor
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13905

  • RAPGEF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAPGEF1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005303.2  NP_941372.1  

    ENSEMBL proteins: 
     ENSP00000361263   ENSP00000361269   ENSP00000407210   ENSP00000394296   ENSP00000410640  
     ENSP00000402174   ENSP00000361264  
    Reactome Protein details: Q13905
    Human Recombinant Protein Products for RAPGEF1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAPGEF1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005768endosome TAS--
    GO:0005769early endosome IDA17724123
    GO:0005829cytosol TAS--

    RAPGEF1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR008937 Ras_GEF
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25
     IPR019804 Ras_G-nucl-exch_fac_CS
     IPR000651 Ras-like_Gua-exchang_fac_N

    Graphical View of Domain Structure for InterPro Entry Q13905

    ProtoNet protein and cluster: Q13905

    1 Blocks protein domain: IPB001895 Guanine-nucleotide dissociation stimulator CDC25

    UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 Ras-GEF domain


    RAPGEF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPGF1_HUMAN, Q13905
    Function: Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals
    from CRK to activate RAS

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0005515protein binding IPI16443220
    GO:0017034Rap guanyl-nucleotide exchange factor activity IMP--
    GO:0017124SH3 domain binding IEA--
         
    RAPGEF1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for RAPGEF1:
     Decreased focal adhesion (FA)   Decreased p24 protein expressi  Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rapgef1):
     cardiovascular system  cellular  embryogenesis  homeostasis/metabolism  mortality/aging 
     muscle  nervous system 

    RAPGEF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rapgef1tm1Mats for RAPGEF1

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    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RAPGEF1 About   (see all 36)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development HGF signaling pathway
    Development HGF signaling pathway0.78
    Signaling of Hepatocyte Growth Factor Receptor0.35
    Development Neurotrophin family signaling0.45
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)0.31
    Neurotrophin signaling pathway0.36
    Renal cell carcinoma0.30
    2Focal Adhesion
    Focal Adhesion0.64
    Integrin-mediated cell adhesion0.38
    Focal adhesion0.64
    HGF Pathway0.34
    3Immune response IFN gamma signaling pathway
    Immune response IFN gamma signaling pathway0.43
    IFN-gamma pathway0.43
    4Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    Development Thrombopoietin-regulated cell processes0.38
    Adipocytokines & Insulin Signaling0.34
    5Signaling by FGFR
    Downstream signal transduction0.90
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by PDGF0.85
    Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/9 EMD Millipore Pathways for RAPGEF1 (see all 9)
        Development HGF signaling pathway
    Cytoskeleton remodeling FAK signaling
    G-protein signaling TC21 regulation pathway
    Immune response IFN gamma signaling pathway
    G-protein signaling Rap1B regulation pathway

    2 R&D Systems Pathways for RAPGEF1
        Adipocytokines & Insulin Signaling
    VEGF - VEGF R2 Signaling Pathways

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAPGEF1 (see all 6)
        HGF Pathway
    IGF1R Signaling
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    Rap1 Pathway

    5/9 GeneGo (Thomson Reuters) Pathways for RAPGEF1 (see all 9)
        G-protein signaling TC21 regulation pathway
    G-protein signaling Rap1A regulation pathway
    Development EPO-induced MAPK pathway
    Development Neurotrophin family signaling
    Development HGF signaling pathway

    5/18 BioSystems Pathways for RAPGEF1 (see all 18)
        Focal Adhesion
    Integrin-mediated cell adhesion
    Insulin Signaling
    IL-5 Signaling Pathway
    IL-3 Signaling Pathway

    5/13        Reactome Pathways for RAPGEF1 (see all 13)
        Frs2-mediated activation
    Cytokine Signaling in Immune system
    Regulation of signaling by CBL
    NGF signalling via TRKA from the plasma membrane
    Downstream signal transduction


    4         Kegg Pathways  (Kegg details for RAPGEF1):
        Focal adhesion
    Neurotrophin signaling pathway
    Insulin signaling pathway
    Renal cell carcinoma


    RAPGEF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPGEF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for RAPGEF1 (Q139051, 2, 3 ENSP000003612644) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081, 2, 3, ENSP000003005744EBI-976876,EBI-886 MINT-15982 I2D: score=7 STRING: ENSP00000300574
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-976876,EBI-79464 MINT-8112195 I2D: score=3 STRING: ENSP00000274335
    ABL1P005192, 3, ENSP000003614234MINT-8110719 MINT-7213240 MINT-7213283 MINT-7213267 I2D: score=3 STRING: ENSP00000361423
    CRKLP461092, 3, ENSP000003463004MINT-7213231 MINT-7213262 I2D: score=4 STRING: ENSP00000346300
    FYNP062411, 3, ENSP000003576564EBI-976876,EBI-515315 I2D: score=2 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity TAS--
    GO:0001568blood vessel development IEA--
    GO:0007165signal transduction NAS7512734
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS7512734
    GO:0007264small GTPase mediated signal transduction ----

    RAPGEF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAPGEF1 (RPGF1)

    Search CenterWatch for drugs/clinical trials and news about RAPGEF1 / RPGF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAPGEF1 gene (2 alternative transcripts): 
    NM_005312.2  NM_198679.1  

    Unigene Cluster for RAPGEF1:

    Rap guanine nucleotide exchange factor (GEF) 1
    Hs.127897  [show with all ESTs]
    Unigene Representative Sequence: NM_198679
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372189(uc022bot.1) ENST00000372195 ENST00000414781 ENST00000419442(uc010mzr.1 uc010mzq.1 uc010mzs.1)
    ENST00000481260 ENST00000438647 ENST00000427994 ENST00000372190(uc022bos.1)

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    Additional mRNA sequence: 

    AJ420417.1 AK302763.1 BC041710.1 CR749354.1 D21239.1 DQ925677.1 DQ925678.1 DQ925679.1 
    DQ925680.1 DQ925681.1 DQ925682.1 DQ925683.1 DQ925684.1 

    21 DOTS entries:

    DT.92431967  DT.316981  DT.100779638  DT.40122665  DT.100779639  DT.75183099  DT.86851760  DT.92431968 
    DT.40315725  DT.95347072  DT.100738450  DT.100776031  DT.121160998  DT.92060025  DT.92431972  DT.97781075 
    DT.101954250  DT.407004  DT.426595  DT.92004610  DT.95270527 

    24/320 AceView cDNA sequences (see all 320):

    AF467069 AI797915 BM917164 BX097548 BU430359 BQ054243 BM704309 AA300930 
    BM473647 BC041710 T11437 W57969 BE882072 BG056481 BG983342 BQ070501 
    BG236282 BM725619 BQ222795 BQ924723 BQ948526 AA807293 BM554698 BQ708232 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a ·
    SP1:        -     -     -           -                                                                       -                                         -     -   
    SP2:              -     -           -                                                                       -                                         -     -   
    SP3:                                                                                                                                      -           -     -   
    SP4:                                -     -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 20b ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
    SP1:        -                                                                     
    SP2:        -                                                                     
    SP3:        -                                                                     
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for RAPGEF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAPGEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RAPGEF1 Expression
    About this image


    See RAPGEF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAPGEF1

    SOURCE GeneReport for Unigene cluster: Hs.127897

    UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
    Tissue specificity: Ubiquitously expressed in adult and fetus. Expression is high in adult skeletal muscle and
    placenta and in fetal brain and heart. Low levels of expression in adult and fetal liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including RAPGEF1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RAPGEF1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rapgef11 , 5 Rap guanine nucleotide exchange factor (GEF) 11, 5 87.52(n)1
    92.88(a)1
      2 (20.32 cM)5
    1077461  NM_054050.21  NP_473391.11 
     296197205 
    chicken
    (Gallus gallus)
    Aves RAPGEF11 Rap guanine nucleotide exchange factor (GEF) 1 80.2(n)
    87.56(a)
      417173  XM_415456.3  XP_415456.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAPGEF16
    Rap guanine nucleotide exchange factor (GEF) 1
    69(a)
    1 ↔ 1
    GL344551.1(4342-20766)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ039810.12   -- 82.34(n)    BJ039810.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563722 similar to guanine nucleotide-releasing factor 2 (specific more 75.24(n)   394101  BC049305.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta C3G1 C3G 50.23(n)
    42.02(a)
      31618  NM_001144694.2  NP_001138166.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y34B4A.46
    Protein Y34B4A.4, isoform a
    30(a)
    1 ↔ 1
    X(5264330-5271806)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SDC25(YLL016W)4 Non-essential Ras guanine nucleotide exchange factor more   --   12(112847-115993)


    ENSEMBL Gene Tree for RAPGEF1 (if available)
    TreeFam Gene Tree for RAPGEF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAPGEF1 gene
    RALGPS22  RASGRF12  RGL22  SOS22  RASGRF22  SOS12  RGL32  RALGDS2  
    RALGPS12  RGL42  RGL12  
    2 SIMAP similar genes for RAPGEF1 using alignment to 14 protein entries:     RPGF1_HUMAN (see all proteins):
    DKFZp781P1719    DKFZp781H1715

    RAPGEF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3194 SNPs in RAPGEF1 are shown (see all 3194)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693754
    ----see VAR_0693752 R Q mis40--------
    rs1121187441,2
    C--103954705(+) TTGTA-/GC/GCG
            
    GGGGG
    4 -- int1 cds11CSA 2
    rs123391671,2
    C,F,H--134465293(+) CACACC/TGCAAA 2 -- ds50015Minor allele frequency- T:0.01NS EA WA 528
    rs1179809001,2
    C,F--134465325(+) CTTCCG/AGGCCC 2 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1422947801,2
    --134465331(+) GGCCCC/TGAAGG 2 -- ds50010--------
    rs70304011,2
    C,F,A,H--134465372(+) CACCCG/AAGGAA 2 -- ds500125Minor allele frequency- A:0.22NS EA NA WA CSA 2700
    rs112434381,2
    C,F,A,H--134465412(+) GGGCTC/GTTGTG 2 -- ds500113Minor allele frequency- G:0.19NS EA NA CSA WA 792
    rs1873697901,2
    --134465440(+) AGCACA/GAGCAA 2 -- ds50010--------
    rs1140210801,2
    C,F--134465678(+) CTGGGC/TGCGGA 2 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1147496001,2
    F--134465679(+) TGGGCG/ACGGAC 2 -- ds50011Minor allele frequency- A:0.06WA 118

    HapMap Linkage Disequilibrium report for RAPGEF1 (134452157 - 134615461 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for RAPGEF1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739122CNV Deletion23290073
    esv2739124CNV Deletion23290073
    esv2739123CNV Deletion23290073
    esv2671200CNV Deletion23128226
    esv271588CNV Insertion20981092
    nsv6738CNV Insertion18451855
    nsv894005CNV Loss21882294
    dgv8317n71CNV Loss21882294
    nsv831742CNV Loss17160897
    nsv518141CNV Gain19592680


    Human Gene Mutation Database (HGMD): RAPGEF1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600303    OMIM disorders: --

    14 diseases for RAPGEF1:    About MalaCards
    blastoma    cervical squamous cell carcinoma    cblc    acute promyelocytic leukemia
    papillary thyroid carcinoma    bipolar disorder    thyroiditis    renal cell carcinoma
    neuroblastoma    squamous cell carcinoma    cervicitis    melanoma
    lung cancer    leukemia


    RAPGEF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RAPGEF1
    Human Genome Epidemiology (HuGE) Navigator: RAPGEF1 (8 documents)

    Export disorders for RAPGEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAPGEF1 gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with RAPGEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins. (PubMed id 7512734)1, 2, 3 Tanaka S....Matsuda M. (1994)
    2. RAPGEF1 gene variants associated with type 2 diabetes in the Korean population. (PubMed id 19297053)1, 4, 9 Hong K.W....Oh B. (2009)
    3. Identification of type 2 diabetes-associated combinat ion of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    6. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    7. Physical and functional interaction between Hck tyrosine kinase and guanine nucleotide exchange factor C3G results in apoptosis, which is independent of C3G catalytic domain. (PubMed id 14551197)1, 2 Shivakrupa R....Swarup G. (2003)
    8. Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins. (PubMed id 8662907)1, 2 Matsuda M.... Kurata T. (1996)
    9. Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization. (PubMed id 7959692)1, 3 Takai S....Matsuda M. (1994)
    10. Four proline-rich sequences of the guanine-nucleotide exchange factor C3G bind with unique specificity to the first Src homology 3 domain of Crk. (PubMed id 7806500)1, 2 Knudsen B.... Hanafusa H. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2889 HGNC: 4568 AceView: RAPGEF1 Ensembl:ENSG00000107263 euGenes: HUgn2889
    ECgene: RAPGEF1 Kegg: 2889 H-InvDB: RAPGEF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAPGEF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAPGEF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAPGEF1 gene:
    Search GeneIP for patents involving RAPGEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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